Understanding the anatomy of dystonia: Determinants of penetrance and phenotype

Current Neurology and Neuroscience Reports

Volumn 13, Issue 11, 2013, Pages

  Lerner, Renata P ^a   Niethammer, Martin ^a   Eidelberg, David ^a  

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

Author keywords

Basal ganglia; Cerebellum; Dystonia; DYT1 dystonia; DYT6 dystonia; Penetrance; Phenotype; Thalamus

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DAMAGE; CEREBELLUM CORTEX; CONNECTOME; DISEASE ASSOCIATION; DISEASE MODEL; DISEASE SEVERITY; DYSTONIA; DYT1 GENE; DYT6 GENE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; NEUROIMAGING; NONHUMAN; PENETRANCE; PHENOTYPIC VARIATION; TANDEM LESION MODEL; THALAMOCORTICAL TRACT; WHITE MATTER; ANIMAL; COMPREHENSION; GENETICS; PHENOTYPE; REVIEW;

ANIMALS; COMPREHENSION; DYSTONIA; HUMANS; PENETRANCE; PHENOTYPE;

EID: 84893135996     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0401-0     Document Type: Article

References (64)

1. Breakefield XO, Blood AJ, Li Y, Hallett M., Hanson PI, Standaert DG. The pathophysiological basis of dystonia (Pubitemid 351272666)
2. Albanese A, Bhatia K, Bressman S.B., Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013; 28: 863-73.
3. Kamm C. Early onset torsion dystonia (Oppenheim's dystonia). Orphanet J Rare Dis. 2006; 1: 48.
4. Nemeth AH. The genetics of primary dystonias and related disorders. Brain. 2002; 125: 695-721. (Pubitemid 34279768)
5. Charlesworth G, Bhatia KP, Wood NW. The genetics of dystonia: new twists in an old tale. Brain. 2013; 136: 2017-37.
6. Moghimi N, Jabbari B, Szekely AM. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease. Eur J Paediatr Neurol. 2013. doi: 10.1016/j.ejpn.2013.05.015.
7. Bressman SB. Dystonia genotypes, phenotypes, and classification. In: Fahn S, Hallett M, DeLong MR, editors. Dystonia 4: advances in neurology. Philadelphia: Lippincott Williams & Wilkins; 2004. p. 101-7.
8. Bressman S. Genetics of dystonia. J Neural Transm Suppl. 2006: 489-95. (Pubitemid 44622242)
9. Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dysto-nia. Am J Hum Genet. 2007; 80: 1188-93. (Pubitemid 47579354)
10. Saunders-Pullman R., Raymond D, Senthil G., Kramer P, Ohmann E, Deligtisch A., et al. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A. 2007; 143A(Part A): 2098-105.
11. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol. 2009; 5: 598-609.
12. Goodchild RE, Kim CE, Dauer WT. Loss of the dystonia-associated protein torsin a selectively disrupts the neuronal nuclear envelope. Neuron. 2005; 48: 923-32. (Pubitemid 41814697)
13. Dobricic VS, Kresojevic ND, Svetel M.V., Jankovic MZ, Petrovic IN, Tomic AD, et al. Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. J Neurol. 2013; 260: 1037-42.
14. Houlden H, Schneider SA, Paudel R, Melchers A., Schwingenschuh P, Edwards M, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010; 74: 846-50.
15. Xiromerisiou G, Houlden H, Scarmeas N., Stamelou M, Kara E, Hardy J., et al. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012; 27: 1290-4.
16. Newman JR, Lehn AC, Boyle R.S., Silburn PA, Mellick GD. Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort. Mov Disord. 2013. doi: 10.1002/mds.25479.
17. Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next? Mov Disord. 2013; 28: 899-905.
18. Kaiser FJ, Osmanoric A, Rakovic A., Erogullari A, Uflacker N, Braunholz D., et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol. 2010; 68: 554-9.
19. Gavarini S, Cayrol C, Fuchs T., Lyons N, Ehrlich ME, Girard J.P., et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010; 68: 549-53.
20. Filip P, Lungu OV, Bares M. Dystonia and the cerebellum: A new field of interest in movement disorders? Clin Neurophysiol. 2013; 124: 1269-76.
21. Niethammer M, Carbon M, Argyelan M., Eidelberg D. Hereditary dystonia as a neurodevelopmental circuit disorder: evidence from neuroimaging. Neurobiol Dis. 2011; 42: 202-9.
22. Berardelli A, Rothwell JC, Hallett M, Thompson P.D., Manfredi M., Marsden CD. The pathophysiology of primary dystonia. Brain. 1998; 121(Pt 7): 1195-212. (Pubitemid 28327398)
23. Marsden CD, Obeso JA, Zarranz J.J., Lang AE. The anatomical basis of symptomatic hemidystonia. Brain. 1985; 108(Pt 2): 463-83. (Pubitemid 15064805)
24. Pettigrew LC, Jankovic J. Hemidystonia: A report of 22 patients and a review of the literature. J Neurol Neurosurg Psychiatry. 1985; 48: 650-7. (Pubitemid 15026240)
25. Vitek JL. Pathophysiology of dystonia: A neuronal model. Mov Disord. 2002; 17 Suppl 3: S49-62. (Pubitemid 36040905)
26. Neychev VK, Gross RE, Lehericy S, Hess E.J., Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011; 42: 185-201.
27. Sadnicka A, Hoffland BS, Bhatia K.P., van de Warrenburg BP, Edwards MJ. The cerebellum in dystonia - help or hindrance? Clin Neurophysiol. 2012; 123: 65-70.
28. Prudente CN, Pardo CA, Xiao J, Hanfelt J., Hess EJ, Ledoux MS, et al. Neuropathology of cervical dystonia. Exp Neurol. 2013; 241: 95-104. This study identifies neuropathological changes such as reduced Purkinje cell linear density in post-mortem human brains and links these changes to THAP1 sequence variations.
29. Standaert DG. Update on the pathology of dystonia. Neurobiol Dis. 2011; 42: 148-51.
30. Blood AJ, Kuster JK, Woodman S.C., Kirlic N., Makhlouf ML, Multhaupt-Buell TJ, et al. Evidence for altered basal ganglia-brainstem connections in cervical dystonia. PloS One. 2012; 7: e31654.
31. Carbon M, Eidelberg D. Abnormal structure-function relationships in hereditary dystonia. Neuroscience. 2009; 164: 220-9.
32. Ramdhani RA, Simonyan K. Primary dystonia: conceptualizing the disorder through a structural brain imaging lens. Tremor Other Hyperkinet Mov (NY). 2013; 3: 1-11.
33. Lehericy S, Tijssen MA, Vidailhet M, Kaji R., Meunier S. The anatomical basis of dystonia: current view using neuroimaging. Mov Disord. 2013; 28: 944-57.
34. Delmaire C, Vidailhet M, Elbaz A., Bourdain F, Bleton JP, Sangla S, et al. Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology. 2007; 69: 376-80. (Pubitemid 47205665)
35. Neychev VK Fan X Mitev VI, Hess EJ, Jinnah HA. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain. 2008; 131: 2499-509.
36. Pizoli CE, Jinnah HA, Billingsley M.L., Hess EJ. Abnormal cerebellar signaling induces dystonia in mice. J Neurosci. 2002; 22: 7825-33. (Pubitemid 35386381)
37. LeDoux MS, Brady KA. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord. 2003; 18: 60-9. (Pubitemid 36150208)
38. Raike RS, Pizoli CE, Weisz C, van den Maagdenberg AM, Jinnah HA, Hess EJ. Limited regional cerebellar dysfunction induces focal dystonia in mice. Neurobiol Dis. 2012; 49C: 200-10. This study pro-vides evidence of cerebellar dysfunction as the primary cause of dystonia symptoms.
39. Fan X, Hughes KE, Jinnah H.A., Hess EJ. Selective and sustained alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor activation in cerebellum induces dystonia in mice. J Pharmacol Exp Ther. 2012; 340: 733-41.
40. Zhao Y, Sharma N, LeDoux MS. The DYT1 carrier state increases energy demand in the olivocerebellar network. Neuroscience. 2011; 177: 183-94.
41. Zoons E, Booij J, Nederveen A.J., Dijk JM, Tijssen MA. Structural, functional and molecular imaging of the brain in primary focal dystonia - a review. Neuroimage. 2011; 56: 1011-20.
42. Delmaire C, Vidailhet M, Wassermann D., Descoteaux M, Valabregue R, Bourdain F., et al. Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp. Arch Neurol. 2009; 66: 502-8.
43. Carbon M, Kingsley PB, Su S, Smith G.S., Spetsieris P., Bressman S, et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann Neurol. 2004; 56: 283-6. (Pubitemid 39037924)
44. Carbon M, Kingsley PB, Tang C, Bressman S., Eidelberg D. Microstructural white matter changes in primary torsion dystonia. Mov Disord. 2008; 23: 234-9. (Pubitemid 351311553)
45. van der Meer JN, Beukers RJ, van der Salm SM, Caan MW, Tijssen MA, Nederveen AJ. White matter abnormalities in gene-positive myoclonus-dystonia. Mov Disord. 2012; 27: 1666-72.
46. Fabbrini G, Pantano P, Totaro P., Calistri V, Colosimo C, Carmellini M., et al. Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur J Neurol. 2008; 15: 185-9.
47. Bonilha L, de Vries PM, Hurd MW, Rorden C, Morgan PS, Besenski N, et al. Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia. Parkinsonism Relat Disord. 2009; 15: 64-7.
48. Colosimo C, Pantano P, Calistri V., Totaro P, Fabbrini G, Berardelli A. Diffusion tensor imaging in primary cervical dystonia. J Neurol Neurosurg Psychiatry. 2005; 76: 1591-3. (Pubitemid 41531715)
49. Bonilha L, de Vries PM, Vincent DJ, Rorden C, Morgan PS, Hurd M.W., et al. Structural white matter abnormalities in patients with idiopathic dystonia. Mov Disord. 2007; 22: 1110-6. (Pubitemid 47067220)
50. Carbon M, Ghilardi MF, Argyelan M, Dhawan V., Bressman SB, Eidelberg D. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain. 2008; 131: 146-54.
51. Argyelan M, Carbon M, Niethammer M., Ulug AM, Voss HU, Bressman SB, et al. Cerebellothalamocortical connectivity regulates penetrance in dystonia. J Neurosci. 2009; 29: 9740-7.
52. Campbell DB, Hess EJ. L-type calcium channels contribute to the tottering mouse dystonic episodes. Mol Pharmacol. 1999; 55: 23-31. (Pubitemid 29042518)
53. Erickson MA, Haburcak M, Smukler L., Dunlap K. Altered functional expression of Purkinje cell calcium channels precedes motor dysfunction in tottering mice. Neuroscience. 2007; 150: 547-55. (Pubitemid 350198736)
54. LeDoux MS, Lorden JF, Ervin JM. Cerebellectomy eliminates the motor syndrome of the genetically dystonic rat. Exp Neurol. 1993; 120: 302-10. (Pubitemid 23165024)
55. Wilson BK Hess EJ. Animal models for dystonia. Mov Disord. 2013; 28: 982-9.
56. Ulug AM, Vo A, Argyelan M., Tanabe L, Schiffer WK, Dewey S, et al. Cerebellothalamocortical pathway abnormalities in torsin a DYT1 knock-in mice. Proc Natl Acad Sci USA. 2011; 108: 6638-43. This study demonstrates evidence of cerebellothalamocortical dysfunction in DYT1 KI mice, similar to that as observed in human studies.
57. Song CH, Fan X, Exeter C.J., Hess EJ, Jinnah HA. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiol Dis. 2012; 48: 66-78. This study identifies microstructural abnormalities in the striatum of DYT1 KI mouse models, providing a correlate to changes observed in imaging studies.
58. Song CH, Bernhard D, Bolarinwa C., Hess EJ, Smith Y, Jinnah HA. Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia. Neurobiol Dis. 2013; 54: 362-71.
59. Vidailhet M, Vercueil L, Houeto J.L., Krystkowiak P., Lagrange C, Yelnik J, et al. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: A prospective 3 year follow-up study. Lancet Neurol. 2007; 6: 223-9. (Pubitemid 46228071)
60. Hung SW, Hamani C, Lozano A.M., Poon YY, Piboolnurak P, Miyasaki JM, et al. Long-term outcome of bilateral pallidal deep brain stimulation for primary cervical dystonia. Neurology. 2007; 68: 457-9. (Pubitemid 46208751)
61. Ostrem JL, Starr PA. Treatment of dystonia with deep brain stimulation. Neurotherapeutics. 2008; 5: 320-30. (Pubitemid 351446207)
62. Quartarone A, Hallett M. Emerging concepts in the physiological basis of dystonia. Mov Disord. 2013; 28: 958-67.
63. Sadnicka A, Kimmich O, Pisarek C, Ruge D, Galea J, Kassavetis P, et al. Pallidal stimulation for cervical dystonia does not correct abnormal temporal discrimination. Mov Disord. 2013. doi: 10.1002/mds.25581.
64. Toda H, Hamani C, Lozano A. Deep brain stimulation in the treatment of dyskinesia and dystonia. Neurosurg Focus. 2004; 17: E2. Stroke